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Article

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).

Clinical genetics - 1 Oct 2000

Xu M Q, Feldman G, Le Merrer M, Shugart Y Y, Glaser D L, Urtizberea J A, Fardeau M, Connor J M, Triffitt J, Smith R, Shore E M, Kaplan F S

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder characterized by congenital malformation of the great toes and by progressive heterotopic endochondral ossification in predictable anatomical patterns. Although elevated levels of bone morphogenetic protein 4 (BMP4) occur in lymphoblastoid cells and in lesional cells of patients with FOP, mutations have not been...

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Source

Identifiers

PMID: 11076054
DOI: 10.1034/j.1399-0004.2000.580407.x

Genes

BMP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).PMID 11076054Read ↗

Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Genetic abnormalities in fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Dysregulation of the BMP‐4 Signaling Pathway in Fibrodysplasia Ossificans ProgressivaSemantic proximity Read ↗

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.Semantic proximity Read ↗

PARESIS OF A BONE MORPHOGENETIC PROTEIN-ANTAGONIST RESPONSE IN A GENETIC DISORDER OF HETEROTOPIC SKELETOGENESISSemantic proximity Read ↗

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.Semantic proximity Read ↗

Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients.Semantic proximity Read ↗

Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.Semantic proximity Read ↗

Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.Semantic proximity Read ↗

Exoneration of NF-kappaB dysregulation in fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.Semantic proximity Read ↗

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